Stains
TSC1 and TSC2

Author: Rebecca Obeng, M.D. (see Authors page)

Revised: 15 February 2016, last major update February 2016

Copyright: (c) 2002-2016, PathologyOutlines.com, Inc.

PubMed Search: TSC1 [title] TSC2

Cite this page: TSC1 and TSC2. PathologyOutlines.com website. http://pathologyoutlines.com/topic/stainsTSC1/2.html. Accessed December 15th, 2017.
Definition / general
  • TSC1 (hamartin) and TSC2 (tuberin) are tumor suppressor genes in chromosomes 9 and 16 respectively
  • TSC1 and TSC2 are expressed in a wide variety of normal tissues including skeletal muscle, brain, heart, liver, lung, kidney, pancreas, placenta, biliary epithelium, fibroblasts, lymphocytes
  • TSC1 complexes with and stabilizes TSC2 resulting in the activation of the GTPase function of TSC2 and the negative regulation of the mTOR signaling pathway (Nat Cell Biol 2002;4:648, Proc Natl Acad Sci U S A 2002;99:13571, Am J Hum Genet 2001;68:64)
  • Mutations in TSC1 or TSC2 lead to autosomal dominant inheritance of tuberous sclerosis complex with hamartomatous lesions in many tissues and organs
  • Mutations in TSC2 are more common than mutations in TSC1
  • Mutations in TSC2 also tend to lead to a more severe clinical phenotype than mutations in TSC1
Case reports
Clinical features
Microscopic (histologic) images

Images hosted on Other servers:

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Various images


Nature image:

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Oxyntic mucosa


Positive staining - normal
  • Skeletal muscle, brain, heart, liver, lung, kidney, pancreas, placenta, biliary epithelium, fibroblasts, lymphocytes